Aliases for NEU1 Gene
External Ids for NEU1 Gene
Previous HGNC Symbols for NEU1 Gene
Previous GeneCards Identifiers for NEU1 Gene
The protein encoded by this gene is a lysosomal enzyme that cleaves terminal sialic acid residues from substrates such as glycoproteins and glycolipids. In the lysosome, this enzyme is part of a heterotrimeric complex together with beta-galactosidase and cathepsin A (the latter is also referred to as 'protective protein'). Mutations in this gene can lead to sialidosis, a lysosomal storage disease that can be type 1 (cherry red spot-myoclonus syndrome or normosomatic type), which is late-onset, or type 2 (the dysmorphic type), which occurs at an earlier age with increased severity. [provided by RefSeq, Jul 2008]
GeneCards Summary for NEU1 Gene
NEU1 (Sialidase 1 (Lysosomal Sialidase)) is a Protein Coding gene. Diseases associated with NEU1 include juvenile sialidosis type 2 and congenital sialidosis type 2. Among its related pathways are Transport to the Golgi and subsequent modification and Metabolism. GO annotations related to this gene include exo-alpha-(2->3)-sialidase activity and exo-alpha-(2->8)-sialidase activity.
UniProtKB/Swiss-Prot for NEU1 Gene
Catalyzes the removal of sialic acid (N-acetylneuraminic acid) moities from glycoproteins and glycolipids. To be active, it is strictly dependent on its presence in the multienzyme complex. Appears to have a preference for alpha 2-3 and alpha 2-6 sialyl linkage.